Welcome to Entry Card of Lysosomal Disorders

Details of RareLED ID 2013

Primary information
ID	2013
Disorder	Mucopolysaccharidosis 6 (MPS6)/MAROTEAUXLAMY SYNDROME
Inheritance	Autosomal recessive
Organ Affected	Ear,Eye,Heart,Bones,Liver,Spleen,Hair,Head,Nervous System
Onset	Early Adult (both)
Genotype-Phenotype Correlation	p.Y251X: severe phenotype (Saudi Arabia), p.H178L is a common founder mutation found in Brazil, p.Y251X and c270_274del5bp pc.91Afs*34 genotypes , in consanguineous cases followed the rapidly severe phenotype. Cardiac involvement : p.R152W mutation in the ARSB gene.
Refrences	28914427